A Single Nucleotide Deletion resulting in Frameshift in Two Korean Neonates with Thyroxine-Binding Globulin Deficiency |
Park, Sang-Joon
(Department of Pediatrics, College of Medicine, The Catholic University)
Suh, Jin-Soon (Department of Pediatrics, College of Medicine, The Catholic University) Jung, Min-Ho (Department of Pediatrics, College of Medicine, The Catholic University) Lee, Hee-Jin (Department of Clinical Research Center, The Catholic University of Korea Holy Family Hospital) Suh, Byung-Kyu (Department of Pediatrics, College of Medicine, The Catholic University) Lee, Won-Bae (Department of Pediatrics, College of Medicine, The Catholic University) Lee, Byung-Churl (Department of Pediatrics, College of Medicine, The Catholic University) |
1 | Huber R, Carrell RW. Implications of the three-dimensional structure of alpha 1-antitrypsin for structure and function of serpins. Biochemistry 1989;28:8591-66 |
2 | Arisaka O, Hosaka A, Shimura N, Yabuta K. Thyroxinebinding globulin deficiency misdiagnosed as hypothyroidism. J Pediatr 1993;123:333-4 |
3 | Refetoff S, Murata Y, Mori Y, Janssen OE, Takeda K, Hayashi Y. Thyroxine-binding globulin : organization of the gene and variants. Horm Res 1996;45:128-38 DOI PUBMED |
4 | Fisher DA. The thyroid. In : Kaplan SA, editor. Clinical paediatric endocrinology, 2nd ed. Philadelphia : Saunders, 1990:118 |
5 | Mandel S, Hanna C, Boston B, Sesser D, LaFranchi S. Thyroxine-binding globulin deficiency detected by newborn screening. J Pediatr 1993;123:227-30 |
6 | Inagaki A, Miura Y, Mori Y, Saito H, Seo H, Oiso Y. Gene screening of thyroxine-binding (TBG) deficiencies in the Japanese : Only two mutations account for TBG TBG deficiencies in the Japanese. J Clin Endocrinol Metab 1996; 81:580-5 DOI |
7 | Mori Y, Miura Y, Oiso Y, Hisao S, Takazumi K. Precise localization of the human thyroxine-binding gene to chromosome Xq22.2 by fluorescence in situ hybridization. Hum Genet 1995;96:481-2 |
8 | Janssen OE, Astner ST, Grasberger H, Gunn SK, Refetoff S. Identification of thyroxine binding globulin-San Diego in a family from Houston and its characterization by in-vitro expression using Xenopus oocytes. J Clin Endocrinol Metab 2000;85:368-72 DOI ScienceOn |
9 | Yamamori I, Mori Y, Seo H, Hirooka Y, Imamura S, Miura Y. Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. J Clin Endocrinol Metab 1991;73: 262-7 DOI |
10 | Yamamori I, Mori Y, Seo H, Hirooka Y, Imamura S, Miura Y, et al. Nucleotide deletion resulting in frameshift as a possible cause of complete thyroxine-binding globulin deficiency in six Japanese families. J Clin Endocrinol Metab 1991;73:262-7 DOI |
11 | Jo IS, Choi HJ, Lee YA, Chung WG, Chang YB. Two cases of congenital TBG deficiency. J Korean Pediatr Soc 1995;38:697-701 |
12 | Bartalena L. Recent achievements in studies on thyroid hormone-binding proteins. Endocr Rev 1990;11:47-64 DOI PUBMED ScienceOn |
13 | Carvalho GA, Weiss RE, Refetoff S. Complete thyroxinebinding globulin (TBG) deficiency produced by a mutation in acceptor splice site causing frameshift and early termination of translation (TBG-kankakee). J Clin Endocrinol Metab 1998;83:3604-8 DOI ScienceOn |
14 | Reutrakul S, Janssen OE, Refetoff S. Three novel mutations causing complete T4-binding globulin deficiency. J Clin Endocrinol Metab 2001;86:5039-44 DOI ScienceOn |
15 | Hayashi Y, Mori Y, Janssen OE, Sunthornthepvarakul T, Weiss RE, Takeda K, et al. Human thyroxine-binding globulin gene? : complete sequence and transcriptional regulation. Mol Endocrinol 1993;7:1049-60 DOI ScienceOn |
16 | Okamoto H, Mori Y, Tani Y, Nakagomi Y, Sano T, Ohyama K, et al. Molecular analysis of females manifesting thyroxine binding globulin (TBG) deficiency : Selective X chromosome inactivation responsible for the difference between phenotype and genotype in TBG deficient females. J Clin Endocrinol Metab 1996;81:2204-8 DOI ScienceOn |